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1دورية أكاديمية
المؤلفون: LIU Xueting, WANG Shuangyi
المصدر: 精准医学杂志, Vol 38, Iss 6, Pp 553-555 (2023)
مصطلحات موضوعية: osteopetrosis, genetic testing, clcn7 gene, mutation, case reports, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Seon Young Kim, Younghak Lee, Yea Eun Kang, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong, Hyon-Seung Yi
المصدر: Endocrinology and Metabolism, Vol 33, Iss 3, Pp 380-386 (2018)
مصطلحات موضوعية: Type 2 autosomal dominant osteopetrosis, CLCN7 gene, Osteosclerosis, Whole exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Dmitrii S. Bug, Ildar M. Barkhatov, Yana V. Gudozhnikova, Artem V. Tishkov, Igor B. Zhulin, Natalia V. Petukhova
المصدر: Genes, Vol 11, Iss 11, p 1242 (2020)
مصطلحات موضوعية: genetics, comparative genomics, phylogenetic analysis, osteopetrosis, CLCN7 gene, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
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المؤلفون: Isik Odaman Al
المصدر: SiSli Etfal Hastanesi Tip Bulteni / The Medical Bulletin of Sisli Hospital.
مصطلحات موضوعية: business.industry, Cancer research, Medicine, CLCN7 Gene, business, Novel mutation, Infantile malignant osteopetrosis
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المؤلفون: Anika Niambi Al-Shura
مصطلحات موضوعية: Genetics, IL1RL1 Gene, BTNL2 Gene, C1GALT1 Gene, IKZF3 Gene, NOTCH4 Gene, CLCN7 Gene, IL2RB Gene, Biology, DYRK1A Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f704039c997d1051a566c8cda273713e
https://doi.org/10.1016/b978-0-12-817578-1.00011-2 -
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المؤلفون: Sigismund Huck, Petra Scholze
المصدر: Frontiers in Synaptic Neuroscience, Vol 12 (2020)
مصطلحات موضوعية: 0301 basic medicine, CHRNA5 polymorphism, Protein subunit, endogenous receptors, CLCN7 Gene, Biology, lcsh:RC321-571, Nicotine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Receptor, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Acetylcholine receptor, calcium, nACh receptor, heterologous expression, Cell Biology, Cell biology, Nicotinic acetylcholine receptor, 030104 developmental biology, Nicotinic agonist, Chromosomal region, subunit composition, Neuroscience, 030217 neurology & neurosurgery, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5eeea70e42a527f949d75ab7ac3a4a
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المؤلفون: Philippe Birembaut, Gaëtan Deslée, Randa Belgacemi, J. Routhier, Uwe Maskos, Myriam Polette, Valérian Dormoy, Z. Diabasana, Julien Ancel
المصدر: B63. EXPLORING COPD BY MARKER, MECHANISM, AND SIGNATURES.
مصطلحات موضوعية: Nicotinic acetylcholine receptor, business.industry, Mutation (genetic algorithm), Cancer research, Medicine, Pulmonary disease, CLCN7 Gene, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f78e9801ccbea42786836703a171a521
https://doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a4018 -
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المؤلفون: A. A. Vishnevskiy
المصدر: Issledovaniâ i Praktika v Medicine, Vol 5, Iss 3, Pp 126-135 (2018)
مصطلحات موضوعية: medicine.medical_specialty, Open biopsy, Decompression, Spinal stenosis, tuberculous spondylitis, genetic testing, 03 medical and health sciences, palliative surgical treatment, 0302 clinical medicine, Spinal cord compression, inheritance, Medicine, Spinal canal, the clcn7 gene mutation, business.industry, General Arts and Humanities, Osteopetrosis, 030206 dentistry, medicine.disease, infectious spondylitis, Surgery, medicine.anatomical_structure, osteopetrosis, Implant, business, 030217 neurology & neurosurgery, Rare disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13ae936ac2b66e3bf647ab7303d2f037
https://doi.org/10.17709/2409-2231-2018-5-3-13 -
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المؤلفون: Ildar M. Barkhatov, N.V. Petukhova, Artem Tishkov, Igor B. Zhulin, Yana V. Gudozhnikova, Dmitrii S. Bug
المصدر: Genes, Vol 11, Iss 1242, p 1242 (2020)
Genesمصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Case Report, Computational biology, comparative genomics, CLCN7 Gene, medicine_pharmacology_other, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, CLCN7 gene, Gene, Genetics (clinical), Genetic testing, Comparative genomics, medicine.diagnostic_test, biology, phylogenetic analysis, Osteopetrosis, Increased Bone Density, medicine.disease, Phenotype, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, biology.protein, Identification (biology), osteopetrosis, CLCN7
وصف الملف: application/pdf